Ann Ital Chir. 2021;92:465-470.
Paragangliomas (PGL) are neuroendocrine tumors arising from neural crest-derived chromaffin cells in the parasympathetic ganglia or in sympathetic ganglia located in the adrenal glands (Pheochromocytoma, PHEO), or extra-adrenal location and around 30-40% of PGL can be hereditary (MEN2, Von Hippel Lindau syndrome, von Reklingausen syndrome and Pheochromocytoma-Paraganglioma syndrome).
We retrospectively evaluate 127 patients with PHEO/PGL treated at our Institution from 1992 to 2018 and report our experience, focusing on different surgical treatment based on hereditary syndrome. Genetic analysis was performed in patients with features suspected for hereditary syndrome to search genetic mutations of RET, VHL, SDHD and SDHB.
Hereditary syndrome was diagnosed in 30 patients (7 patients affected by MEN2A, 6 VHL, 9 NF1, 2 PGL- 1, and 6 PGL-4). 17 patients with monolateral PHEO underwent adrenalectomy (laparoscopic approach since 1998); 8 patients with bilateral adrenal lesions underwent bilateral adrenalectomy with cortical-sparing approach of almost one gland.
Syndromic PGLs are rare conditions; surgery is the treatment of choice. Adrenal PGL requires laparoscopic adrenalectomy with transperitoneal lateral approach as gold standard. For genetic syndrome such as MEN2 and VHL, laparoscopic cortical sparing adrenalectomy of at least one gland should be considered.
Adrenalectomy, Endocrine Surgery, Hereditary Syndromes, Paraganglioma, Pheochromocytoma.
嗜铬细胞瘤（PGL）是起源于副交感神经节或位于肾上腺的交感神经节的神经嵴源性嗜铬细胞的神经内分泌肿瘤（嗜铬细胞瘤，PHEO），或肾上腺外位置，约 30-40%的 PGL 是遗传性的（MEN2、希佩尔-林道综合征、冯·雷克林豪森综合征和嗜铬细胞瘤-副神经节瘤综合征）。
我们回顾性评估了 1992 年至 2018 年在我院治疗的 127 例 PHEO/PGL 患者，并报告了我们的经验，重点介绍了基于遗传性综合征的不同手术治疗。对有遗传性综合征特征的患者进行基因分析，以寻找 RET、VHL、SDHD 和 SDHB 的基因突变。
诊断出 30 例遗传性综合征患者（7 例 MEN2A、6 例 VHL、9 例 NF1、2 例 PGL-1 和 6 例 PGL-4）。17 例单侧 PHEO 行肾上腺切除术（自 1998 年以来采用腹腔镜方法）；8 例双侧肾上腺病变患者行双侧肾上腺切除术，其中近 1 侧采用皮质保留方法。
综合征性 PGL 是罕见疾病；手术是治疗的首选方法。肾上腺 PGL 需要经腹腔腹腔镜肾上腺外侧入路作为金标准。对于 MEN2 和 VHL 等遗传综合征，应考虑至少一侧肾上腺的腹腔镜皮质保留肾上腺切除术。
肾上腺切除术，内分泌外科，遗传性综合征，副神经节瘤，嗜铬细胞瘤。
